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rs1057516553

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516553(A;G)
Make rs1057516553(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position108258984
GeneATM
is asnp
is mentioned by
dbSNPrs1057516553
dbSNP (old)rs1057516553
ClinGenrs1057516553
ebirs1057516553
HLIrs1057516553
Exacrs1057516553
Gnomadrs1057516553
Varsomers1057516553
Maprs1057516553
PheGenIrs1057516553
Biobankrs1057516553
1000 genomesrs1057516553
hgdprs1057516553
ensemblrs1057516553
gopubmedrs1057516553
geneviewrs1057516553
scholarrs1057516553
googlers1057516553
pharmgkbrs1057516553
gwascentralrs1057516553
openSNPrs1057516553
23andMers1057516553
23andMe allrs1057516553
SNPshotrs1057516553
SNPdbers1057516553
MSV3drs1057516553
GWAS Ctlgrs1057516553
Max Magnitude0
ClinVar
Risk rs1057516553(G;G)
Alt rs1057516553(G;G)
Reference Rs1057516553(A;A)
Significance Probable-Pathogenic
Disease Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108129711A>G
CLNSRC
CLNACC RCV000411480.1,